(Q45183161)

10 December 2017

title

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil (English)

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10 December 2017

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Sandra Leistner-Segal

7

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10 December 2017

Ida Vanessa D Schwartz

5

object named as

Ida Vanessa D Schwartz

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Roberto Giugliani

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10 December 2017

author name string

Fabiana Moura Costa-Motta

1

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10 December 2017

Angelina Xavier Acosta

2

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Kiyoko Abé-Sandes

3

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Fernanda Bender

4

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publication date

20 September 2011

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Molecular Genetics and Metabolism

10 December 2017

published in

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10 December 2017

volume

104

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10 December 2017

issue

4

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10 December 2017

page(s)

603-607

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Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

10 December 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Structure of the human arylsulfatase B gene.

7 January 2021

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Components and proteolytic processing sites of arylsulfatase B from human placenta

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Maroteaux-lamy syndrome: five novel mutations and their structural localization.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Mutational analysis of 105 mucopolysaccharidosis type VI patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

A simple salting out procedure for extracting DNA from human nucleated cells

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Mucopolysaccharidosis VI.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

Recommendations for standardized human pedigree nomenclature.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.017

10.1016/J.YMGME.2011.09.017

7 January 2021

Identifiers

DOI

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10 December 2017

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